Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672395 | SCV000797494 | likely pathogenic | Fanconi anemia, complementation group A | 2018-01-26 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Laboratory, |
RCV000672395 | SCV000889967 | pathogenic | Fanconi anemia, complementation group A | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV000672395 | SCV001425824 | pathogenic | Fanconi anemia, complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |